Conclusion
In summary, our study comprehensively elucidates the association of 12
ultrasonographic anomalies and 12 soft markers with pCNV in comparison
to fetuses with no identifiable anomalies, providing reliable reference
for appropriate genetic counselling of fetuses with different
ultrasonographic findings. We recommend CNV analysis for fetuses with
structural anomalies and specific soft markers, such as increased nuchal
translucency, mild ventriculomegaly, absent or hypoplastic nasal bone,
single umbilical artery, and thickened nuchal fold. Furthermore, we
expect that, this large dataset could be used in machine learning for
artificial intelligence-based assessment of fetal genetic risk in the
future.